NBPF3
NBPF member 3
Summary
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 2013]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1976403 | 1:21,766,453 | A/C | regulatory region variant | — |
| rs1396666499 | 1:21,771,581 | T/C | — | uncertain significance |
| rs199755595 | 1:21,771,686 | G/T | — | uncertain significance |
| rs371433372 | 1:21,771,700 | C/G | — | uncertain significance |
| rs6426693 | 1:21,781,792 | G/A | — | — |
| rs4654748 | 1:21,786,068 | C/T | downstream gene variant | — |
| rs558462412 | 1:21,788,146 | G/A | — | — |
| rs201567289 | 1:21,795,275 | C/G | — | uncertain significance |
| rs560746790 | 1:21,795,326 | C/A | — | uncertain significance |
| rs147375740 | 1:21,795,330 | A/G | — | uncertain significance |
| rs1418691296 | 1:21,795,354 | G/A | — | uncertain significance |
| rs72872288 | 1:21,796,504 | G/C | intron variant | — |
| rs1642536568 | 1:21,797,171 | G/C | — | uncertain significance |
| rs371319985 | 1:21,797,191 | A/G | — | uncertain significance |
| rs200360894 | 1:21,798,142 | C/G | — | uncertain significance |
| rs369523655 | 1:21,798,145 | G/A | — | uncertain significance |
| rs368149224 | 1:21,798,181 | C/T | — | uncertain significance |
| rs146776348 | 1:21,798,183 | G/A | — | uncertain significance |
| rs2545085092 | 1:21,798,199 | C/T | — | uncertain significance |
| rs946483741 | 1:21,798,207 | C/T | — | uncertain significance |
| rs774107457 | 1:21,798,244 | T/C | — | uncertain significance |
| rs2545085678 | 1:21,798,262 | A/C | — | uncertain significance |
| rs1642611514 | 1:21,798,273 | C/G | — | uncertain significance |
| rs372895017 | 1:21,799,398 | T/C | — | uncertain significance |
| rs11584459 | 1:21,799,413 | C/T | — | benign |
| rs1382003908 | 1:21,799,952 | C/T | — | uncertain significance |
| rs141340113 | 1:21,799,979 | G/A | — | likely benign |
| rs149262245 | 1:21,801,393 | A/G | missense variant | — |
| rs530349956 | 1:21,801,403 | T/C | — | likely benign |
| rs147635835 | 1:21,804,794 | A/T | — | uncertain significance |
| rs755458562 | 1:21,806,581 | G/T | — | uncertain significance |
| rs1846852 | 1:21,807,427 | G/T | — | benign |
| rs770684911 | 1:21,807,461 | C/T | — | uncertain significance |
| rs751399740 | 1:21,808,175 | C/G | — | uncertain significance |
| rs556772059 | 1:21,808,238 | G/A | — | likely benign |
| rs756957519 | 1:21,809,784 | G/A | — | likely benign |
| rs757897716 | 1:21,809,836 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.